Variant report

Variant	esv2760863
Chromosome Location	chr4:121522458-121547461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:121522532..121523424-chr4:122017550..122018444,2	MCF-7	breast:
2	chr4:121526673..121529460-chr4:121534400..121537130,2	MCF-7	breast:
3	chr4:121514733..121517411-chr4:121540771..121542429,2	K562	blood:
4	chr4:121526673..121529460-chr4:121534400..121537130,2	MCF-7	breast:
5	chr3:122274439..122275125-chr4:121523467..121524237,2	MCF-7	breast:

Extended variants
information (count: 377 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17341782	chr4:121522458-121522459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568407633	chr4:121522523-121522524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537296401	chr4:121522598-121522599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557136333	chr4:121522619-121522620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148940607	chr4:121522622-121522623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201925429	chr4:121522637-121522638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75756459	chr4:121522658-121522659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193154738	chr4:121522673-121522674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184999447	chr4:121522692-121522693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542190716	chr4:121522726-121522727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572216482	chr4:121522743-121522744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13139902	chr4:121522796-121522797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112817039	chr4:121522819-121522820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115240718	chr4:121522824-121522825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573221487	chr4:121522845-121522846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190807726	chr4:121522851-121522852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552017807	chr4:121522871-121522872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17051101	chr4:121522912-121522913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528117083	chr4:121522921-121522922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560870333	chr4:121522933-121522934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369962548	chr4:121522942-121522943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548165726	chr4:121522947-121522948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567672459	chr4:121522948-121522949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574581815	chr4:121522970-121522971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537358328	chr4:121523011-121523012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550828670	chr4:121523041-121523042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375535555	chr4:121523051-121523052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143649223	chr4:121523077-121523078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540001165	chr4:121523166-121523167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138263906	chr4:121523218-121523219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573277038	chr4:121523309-121523310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182121778	chr4:121523330-121523331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185190674	chr4:121523338-121523339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142458477	chr4:121523345-121523346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370109469	chr4:121523346-121523347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34388403	chr4:121523356-121523357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543752573	chr4:121523425-121523426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188099990	chr4:121523452-121523453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180724277	chr4:121523532-121523533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565066457	chr4:121523548-121523549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146468270	chr4:121523569-121523570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185559276	chr4:121523577-121523578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138125202	chr4:121523691-121523692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190994312	chr4:121523710-121523711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143620322	chr4:121523753-121523754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183819736	chr4:121523763-121523764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186743190	chr4:121523774-121523775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570793324	chr4:121523803-121523804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192409136	chr4:121523812-121523813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552238330	chr4:121523834-121523835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121511200-121527400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:121524000-121524400	Weak transcription	Aorta	Aorta
3	chr4:121524400-121524800	ZNF genes & repeats	Aorta	Aorta
4	chr4:121524600-121525000	ZNF genes & repeats	Pancreas	Pancrea
5	chr4:121525000-121525400	Weak transcription	Pancreas	Pancrea
6	chr4:121532000-121533400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:121534400-121535200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:121535200-121535600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:121535600-121536000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:121535600-121536000	Enhancers	Ovary	ovary
11	chr4:121536000-121537000	Weak transcription	Ovary	ovary
12	chr4:121537200-121537400	Enhancers	Ovary	ovary
13	chr4:121538600-121539000	Enhancers	Fetal Intestine Large	intestine

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